Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602539 | SCV000716621 | likely benign | not specified | 2017-03-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001504236 | SCV001709109 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001504236 | SCV002093324 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2018-08-11 | no assertion criteria provided | clinical testing |